A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.
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| Title: | A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy. |
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| Authors: | Elbagoury NM; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt. nm.el-bagoury@nrc.sci.eg.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt. nm.el-bagoury@nrc.sci.eg., Tawfik CA; Department of Ophthalmology, Ain Shams University, Cairo, Egypt.; Watany Eye Hospital, Cairo, Egypt., Abdel-Aleem AF; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt., Fathy HM; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt., Baddar DN; Watany Eye Hospital, Cairo, Egypt.; Research Institute of Ophthalmology, Giza, Egypt., Essawi ML; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.; Center of Excellence for Human Genetics, National Research Centre, Cairo, Egypt. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 May 25; Vol. 20 (1), pp. 248. Date of Electronic Publication: 2025 May 25. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-025-03813-1 |
